Variant report

Variant	rs16904181
Chromosome Location	chr8:130976074-130976075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130974580..130976381-chr8:130980211..130982416,2	MCF-7	breast:
2	chr8:130975036..130977455-chr8:130978942..130980656,2	K562	blood:
3	chr8:130951399..130953886-chr8:130974806..130976477,2	K562	blood:
4	chr8:130973733..130976388-chr8:130984110..130986683,2	K562	blood:
5	chr8:130973287..130976149-chr8:130988639..130991439,2	MCF-7	breast:
6	chr8:130965774..130967791-chr8:130974900..130977591,2	K562	blood:
7	chr8:130975214..130976755-chr8:130983045..130985731,2	MCF-7	breast:
8	chr8:130971040..130973557-chr8:130975903..130977570,2	K562	blood:
9	chr8:130974926..130980005-chr8:130980805..130983259,5	K562	blood:
10	chr8:130974170..130976536-chr8:130978429..130983259,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253720	Chromatin interaction
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10107362	0.94[ASN][1000 genomes]
rs12541347	0.83[CHB][hapmap]
rs12550248	0.87[CHB][hapmap]
rs1563167	0.82[CHB][hapmap]
rs4733754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4733757	0.83[CHB][hapmap]
rs6470787	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470789	0.83[CHB][hapmap]
rs7003672	0.83[CHB][hapmap]
rs7016267	0.83[CHB][hapmap]
rs7357390	0.83[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap]
rs7388128	0.83[CHB][hapmap]
rs749029	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs7823995	0.83[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs837231	0.88[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs874579	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs882446	0.87[CHB][hapmap];0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130952800-130981400	Weak transcription	Left Ventricle	heart
2	chr8:130953000-130980000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:130953400-130982000	Weak transcription	Hela-S3	cervix
4	chr8:130953600-130980000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:130959200-130979400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:130959200-130982200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:130959200-130983400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:130961000-130977200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:130965800-130983800	Weak transcription	HSMMtube	muscle
10	chr8:130966000-130976600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:130966000-130981600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:130966000-130984400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:130966000-130984800	Weak transcription	Esophagus	oesophagus
14	chr8:130966200-130981600	Weak transcription	Placenta	Placenta
15	chr8:130967200-130981000	Weak transcription	Fetal Intestine Small	intestine
16	chr8:130970400-130984800	Weak transcription	Fetal Heart	heart
17	chr8:130971200-130981000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:130971600-130981600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:130971600-130982000	Weak transcription	K562	blood
20	chr8:130971600-130984800	Weak transcription	Colonic Mucosa	Colon
21	chr8:130971600-130985400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:130971800-130980000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:130971800-130980000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:130972200-130976600	Weak transcription	Spleen	Spleen
25	chr8:130972200-130980000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:130972200-130980200	Weak transcription	Fetal Thymus	thymus
27	chr8:130972400-130980000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:130972400-130981600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:130972600-130983000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:130973400-130978800	Strong transcription	Primary T cells from cord blood	blood
31	chr8:130973600-130978600	Strong transcription	Primary B cells from cord blood	blood
32	chr8:130973800-130976200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr8:130974000-130976400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:130974200-130980000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:130974200-130982000	Weak transcription	NHEK	skin
36	chr8:130974200-130982400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr8:130974600-130976800	Enhancers	Brain Hippocampus Middle	brain
38	chr8:130974600-130983000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr8:130974800-130976400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:130974800-130977200	Enhancers	Brain Substantia Nigra	brain
41	chr8:130975200-130976200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr8:130975200-130976400	Strong transcription	A549	lung
43	chr8:130975200-130976600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr8:130975200-130976800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:130975200-130977400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr8:130975200-130977800	Strong transcription	Thymus	Thymus
47	chr8:130975200-130983400	Weak transcription	HSMM	muscle
48	chr8:130975200-130985600	Weak transcription	Liver	Liver
49	chr8:130975400-130976200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr8:130975400-130976600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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